Cases of neuro-ferritinopathy from Sudan
DOI:
https://doi.org/10.53332/kmj.v12i1.599الكلمات المفتاحية:
Neuro-ferritnopathy، (NBIA)، Unified Dystonia Rating Scale، (UDRS)الملخص
Neuro-ferritnopathy (NBIA) is a bag of diseases due to abnormal iron metabolism. It has different underlying genetic and enzymatic abnormalities. On the other hand, they share some radiological features. Patients present with a wide range of cerebral symptoms and signs. Diagnosis depends on the semiology, genetic testing and MRI imaging. No specific treatment is available for these cases and they represent a challenge to the treating neurologist. Here we illustrate two interesting cases with their clinical and imaging findings to raise the awareness of such rare diseases and help diagnosing them in a low- resource setting.التنزيلات
منشور
2021-11-22
إصدار
القسم
Articles